ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.568G>A (p.Val190Met) (rs281865441)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen PAH Variant Curation Expert Panel RCV000106360 SCV000886581 uncertain significance Phenylketonuria 2018-12-10 reviewed by expert panel curation The c.568G>A (p.Val190Met) variant in PAH has not been reported in the literature to our knowledge. The reference from BioPKU (Namour B, Jeannesson E, Chery C, Gueant JL, Feillet F, 2013) cannot be located. This variant is absent from ExAC, gnomAD, 1000G, and ESP. It is predicted deleterious in SIFT, Polyphen2, MutationTaster, and REVEL=0.836. Another variant at this amino acid (p.V190G) is interpreted as pathogenic by the PAH VCEP. In summary, this variant meets criteria to be classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PM2, PM5, PP3.
Inserm U 954, Faculté de Médecine de Nancy RCV000106360 SCV000143860 probable-pathogenic Phenylketonuria no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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